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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.
Sci Rep
January 2025
Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China.
Autosomal dominant deafness-15 which is caused by mutation in the POU4F3 gene, has been reported with a wide degree of clinical heterogeneity, even between intrafamilial members. However, the reason is still elusive. In this study, A four-generation Chinese family with 11 patients manifesting late-onset progressive non-syndromic hearing loss was recruited.
View Article and Find Full Text PDFSLC10A7 regulates O-GalNAc glycosylation and Ca homeostasis in the secretory pathway: insights into SLC10A7-CDG.
Cell Mol Life Sci
January 2025
Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale Et Fonctionnelle, 59000, Lille, France.
Glycans are known to be fundamental for many cellular and physiological functions. Congenital disorders of glycosylation (CDG) currently encompassing over 160 subtypes, are characterized by glycan synthesis and/or processing defects. Despite the increasing number of CDG patients, therapeutic options remain very limited as our knowledge on glycan synthesis is fragmented.
View Article and Find Full Text PDFSertaconazole, an Imidazole Antifungal Agent, Suppresses the Stemness of Breast Cancer Cells by Inhibiting Stat3 Signaling.
In Vivo
December 2024
Graduate Program for Bio-health/Innovative Drug Development using Subtropical Bio-Resources, Jeju National University, Jeju, Republic of Korea;
Background/aim: Breast cancer stem cells (BCSCs) are a subpopulation of tumor cells that play a role in therapeutic resistance. In this study, we demonstrated that sertaconazole, an antifungal agent, displayed a potent inhibition on cancer stem cells (CSCs) and investigated the mechanism of action involved in its anti-BCSC effect.
Materials And Methods: The effect of sertaconazole on BCSCs was investigated using a mammosphere formation assay, a colony formation assay, and a cell migration assay.
Comparative analysis of bulk ceramics and thick film coatings for optimized energy storage technologies.
Sci Rep
December 2024
ENET Centre, VSB- Technical University of Ostrava, Ostrava, Czech Republic.
The present investigation provides an easy and affordable strategy for fabrication of functional ceramics BiNaTiO-SrFeO (BNT-SrF5) thick films on a flexible, inexpensive and electrically integrated substrate using electrophoretic deposition process (EPD). EPD is a widely accepted, environmentally friendly method for applying coatings from a colloidal suspension to conductive substrates. Lead-free ferroelectric BNT-SrF5 powder was synthesized by solid state method to fabricate bulk samples and thick films (30-160 μm) by EPD process.
View Article and Find Full Text PDFSynthesis and characterizing of MgO, 58S bioactive glass and N carboxymethyl chitosan and coating composites of them on SS316L.
Int J Biol Macromol
December 2024
Department of Materials Science and Engineering, Faculty of Engineering & Technology, Tarbiat Modares Universirty, Tehran, Iran.
One of the most effective ways to solve the problems caused by the presence of steel implants in the body is to apply a coating to them. This study aims to develop and optimize composite coatings of magnesium oxide (MgO), 58S bioactive glass (BG), and N-carboxymethyl chitosan (N-CMC) on stainless steel (SS316L) substrates using the electrophoretic deposition (EPD) method. The synthesized materials were characterized using FTIR, XRD, and SEM to confirm their structure and morphology prior to coating.
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